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Preliminary analysis of AZFb region duplication by quantitative real-time PCR
1Division of Medical Genetics and Andrology Centre, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, Ljubljana, Slajmerjeva 3, Ljubljana 1000, Slovenia.
Background:
Deletions of the AZFb region on the long arm of the human Y chromosome cause male infertility. However, the reciprocal products of these deletion events, AZFb duplications, have not been reported to date. Furthermore, it is not known whether potential AZFb duplications represent a risk factor for spermatogenic failure.
Methods:
A total of 150 patients with male idiopathic subfertility (79 non-obstructive azoospermics and 71 oligozoospermics) and 150 fertile men were analysed for deletion/duplication of the sY125 locus and of the JARID1D gene using real-time PCR.
Results:
Three azoospermic men had deletion of the sY125 locus and of the JARID1D gene. No duplication was detected.
Conclusions:
In our limited sample, AZFb duplications do not appear to be associated with male infertility.
